作者
Marjan E Steenweg, Cornelis Jakobs, Abdellatif Errami, Silvy JM van Dooren, Maria T Adeva Bartolomé, Peter Aerssens, Persephone Augoustides‐Savvapoulou, Ivo Baric, Matthias Baumann, Luisa Bonafé, Brigitte Chabrol, Joe TR Clarke, Peter Clayton, Mahmut Coker, Sarah Cooper, Tzipora Falik‐Zaccai, Mark Gorman, Andreas Hahn, Alev Hasanoglu, Mary D King, Hans BC de Klerk, Stanley H Korman, Céline Lee, Allan Meldgaard Lund, Vlatka Mejaški‐Bošnjak, Ignacio Pascual‐Castroviejo, Aparna Raadhyaksha, Terje Rootwelt, Agathe Roubertie, Maria L Ruiz‐Falco, Emmanuel Scalais, Ulf Schimmel, Manuel Seijo‐Martinez, Mohnish Suri, Jolanta Sykut‐Cegielska, Friedrich K Trefz, Graziella Uziel, Vassili Valayannopoulos, Christine Vianey‐Saban, Stefan Vlaho, Julia Vodopiutz, Moacir Wajner, John Walter, Claudia Walter‐Derbort, Zuhal Yapici, Dimitrios I Zafeiriou, Marieke D Spreeuwenberg, Jacopo Celli, Johan T den Dunnen, Marjo S van der Knaap, Gajja S Salomons
发表日期
2010/4
来源
Human mutation
卷号
31
期号
4
页码范围
380-390
出版商
Wiley Subscription Services, Inc., A Wiley Company
简介
L‐2‐Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals only have neurological manifestations, including psychomotor retardation, cerebellar ataxia, and more variably macrocephaly, or epilepsy. The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH. About 200 patients with elevated concentrations of 2‐hydroxyglutarate (2HG) in the urine were referred for chiral determination of 2HG and L2HGDH mutational analysis. All patients with increased L2HG (n=106; 83 families) were included. Clinical information on 61 patients was obtained via questionnaires. In 82 families the mutations were detected by direct sequence analysis and/or multiplex ligation dependent probe amplification (MLPA), including one case where MLPA was essential to …
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An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
ME Steenweg, C Jakobs, A Errami, SJM van Dooren… - Human mutation, 2010